Amelogenesis imperfecta: what is it and how is it treated?

Amelogenesis imperfecta is a genetic defect that alters tooth enamel. How does it manifest? What complications does it cause? We detail it here.

Amelogenesis imperfecta: what is it and how is it treated?

Last update: October 28, 2022

Tooth enamel is the outermost hard tissue that covers and protects the teeth. There are some rare conditions that can affect this structure. Amelogenesis imperfecta is one of them and we will talk about it in this article.

We know the hardest tissue in the body, which covers and protects the visible part of the teeth, with the name “enamel”. It is formed by calcium phosphate in the form of hydroxyapatite crystals. It is also what gives the smile its characteristic whitish appearance.

But during the formation of teeth, anomalies can occur that affect the correct development of tissues. In amelogenesis imperfecta, enamel cannot form normally. Why does it happen? To find!

What is amelogenesis imperfecta?

Amelogenesis imperfecta is a genetic condition that prevents the normal development of tooth enamel. This pathology can occur in both primary and permanent teeth.

It is a rare condition. Although data on its prevalence vary between different countries, global terms It is estimated to occur in 1 out of every 200 people.

The origin of this dental disease mutations genes passed from parent to child. In any case, there may also be changes in the genetic material that is not antecedent in the family group.

Several genes are involved during enamel formation – a process known as ‘amelogenesis’. Source of the disorder may be due to mutations in any of these pieces of genetic material.

As the disease develops, changes occur in the appearance and structure of the teeth. They are particularly smaller, brittle, and often spotted. They are also more likely to suffer from tenderness, abrasions, bruises or falls.

Amelogenesis imperfecta is often detected in childhood with the eruption of primary or permanent teeth.

Amelogenesis imperfecta species

Change in tooth enamel is the main feature of amelogenesis imperfecta. Despite this, there are different clinical forms of the disease and their symptoms are different. This is highly dependent on the gene affected and the enamel formation process in which it is involved.

Well, the symptoms of the disease vary depending on when the change occurs. In some cases, different types can coexist in the same patient.

According to that Center for Genetic Information and Rare DiseasesThere are 4 main variants. These, in turn, are divided into 17 or 18 subtypes, depending on the genetic mutations that produced them.

Type I or hypoplastic

Change happens in the beginning. Cells that need to be customized to take over enamel formation cannot differentiate into ameloblasts. The result is the presence of a very thin outer layer of teeth.

The teeth have a rough surface with linear indentations and are usually brown. In addition, it is common for teeth to be smaller and under-implanted.

Type II or hypomaturity

The defect occurs at the end of the enamel formation process. Tissue calcification is incomplete and imperfect. The enamel of these teeth usually has a different consistency and is less hard than normal.

In this way, it cannot fulfill its protective function and it is common for the teeth to break easily and be damaged. Meanwhile, the coloration is usually yellow-brown and the surface is smooth. In some cases there is a mottled appearance or vertical stripes.

When taking radiographic images, there is not a very clear contrast between enamel and dentin, as in the healthy parts. It is common for patients with this type of amelogenesis imperfecta to have tooth sensitivity and have dental problems. occlusion associated like an open bite.

Type III or hypocalcified

In this type of amelogenesis imperfecta, the problem arises in the calcification phase of the organic matrix. In this case, the amount and thickness of enamel is normal, but mineralization is less.

The teeth are yellow-brown in color and their consistency is soft. As in Type II, They are very brittle, often crumble and break easily. Enamel appears less radiopaque than normal on radiographic images.

Due to the poor quality of the enamel, these parts are easily exposed to tissue loss or wear due to external factors. This happens prematurely, exposing the underlying dentin and causing sensitivity issues.

This type of amelogenesis imperfecta is also associated with some occlusion problems.

Type IV or hypomature-hypoplastic

In this case, the features of amelogenesis imperfecta types I and II are combined. It often occurs with taurodontism, an anomaly in the shape and size of the pulp chamber of the teeth.

The enamel layer is thin and smooth, mottled white, brown or yellowish. Differential diagnosis should be made with dental fluorosis because the appearance is similar.

Complications of amelogenesis imperfecta

Insufficient or poor quality enamel means that teeth with amelogenesis imperfecta do not have adequate protection. Therefore, habitual practices such as eating, chewing or brushing teeth can cause wear and loss of tooth tissue.

The defect causes the underlying dentin to be exposed. With this, the person suffers from tooth sensitivity to contact with substances. cold, hot or sweet; while biting. In some cases, the pain can become quite severe and chronic.

It also increases susceptibility to the action of bacteria and their acids. Then, The appearance of bruises is quite common. It’s also common for teeth to break or break easily, even during common activities like chewing.

Among other things, this pathology can affect the tissues surrounding the teeth. Gums, root cementum, periodontal ligament, and alveolar bone may be affected.

And since imperfect enamel affects dental aesthetics, Self-esteem and security issues are common. For some, it even becomes the subject of rejection or ridicule.

Diagnosis and treatment

Changes in the appearance of the teeth mean that the diagnosis of amelogenesis imperfecta is made as soon as the teeth appear in the mouth. This will be in infants or older children, depending on whether the affected elements are milk or certain.

Oral examination and imaging radiographic usually enough to reach a diagnosis. Still, family history and complementary and genetic studies help confirm the disorder.


Treatment will depend on the type of amelogenesis imperfecta diagnosed and the age of the patient. Therapeutics will change and renew as the child grows to accompany their development and new needs.

In some cases, seals and fillings can be useful with direct resins. However, crown restorations that cover and protect the entire tooth are the most commonly used measure.

Not only can the associated complications be avoided with these procedures, but elements are obtained to obtain a color, shape and size similar to normal ones. In other words, it gives aesthetics and functionality to the mouth.

As children grow, it is important to assess the need for orthodontic or surgical treatment because, as we mentioned, malocclusions are common in these patients and timely correction will prevent future problems.

Preventive procedures are also part of care Patients with amelogenesis imperfecta These are some of the measures that help to care for such dentures:

  • Adequate oral hygiene.
  • Healthy diet, low sugar and acid substances.
  • Topical application of fluoride.
  • Placement sealants.
  • Chlorhexidine is rinsed off.
  • The use of special pastes for tooth sensitivity.

In more severe cases, extraction and subsequent prosthetic rehabilitation of teeth with a poor prognosis will be indicated.

Adequate dental hygiene is essential to reduce the risks of complications from amelogenesis imperfecta.

Caring for children with amelogenesis imperfecta

Amelogenesis imperfecta is a rare oral disorder. However, for those who suffer from it, This changes the aesthetics and functionality of your teeth. It also paves the way for annoying complications such as tenderness, fractures and cavities.

Taking children to the pediatric dentist early is an important action to detect and solve this problem in a timely manner. The professional accompanies the young child with age-appropriate therapeutic measures that improve their quality of life.

Home care is also very important. Take care of proper oral hygiene and a healthy diet in low-sugar and acidic foods. This helps prevent complications associated with unprotected teeth.

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